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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HYCC1

Variant:p.K17_T18Splc

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HYCC1

NM_032581.4:p.K17_T18Splc

hg38:chr7:22991060 C>T

Associated Papers

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

Ugur SA et al.

European Journal of Human Genetics : Ejhg, 2008

17928815 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."